Canonical Allele Identifier: CA263328

Gene: GLDC

Linked Data

• ClinVar Variation Id: 56057
• ClinVar RCV Id: RCV000049466
• dbSNP Id: rs386833538
• MyVariant Identifiers: chr9:g.6556275C>G (hg19) ; chr9:g.6556275C>G (hg38)
• PubMed: PMID:16450403

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556275C>G , CM000671.2:g.6556275C>G	GRCh38
NC_000009.11:g.6556275C>G , CM000671.1:g.6556275C>G	GRCh37
NC_000009.10:g.6546275C>G	NCBI36
NG_016397.1:g.94418G>C , LRG_643:g.94418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2080G>C MANE Select	ENSP00000370737.4:p.Ala694Pro
ENST00000638233.1:n.515G>C
ENST00000638661.1:c.280G>C	ENSP00000491369.1:p.Ala94Pro
ENST00000638694.1:n.267G>C
ENST00000639318.1:c.280G>C	ENSP00000491932.1:p.Ala94Pro
ENST00000639364.1:n.1780G>C
ENST00000639443.1:n.1648G>C
ENST00000639954.1:n.1788G>C
ENST00000640505.1:n.319G>C
ENST00000321612.6:c.2080G>C	ENSP00000370737.3:p.Ala694Pro
NM_000170.2:c.2080G>C , LRG_643t1:c.2080G>C	NP_000161.2:p.Ala694Pro
NM_000170.3:c.2080G>C MANE Select	NP_000161.2:p.Ala694Pro